Neurological disease in a child with carnosinase deficiency
Case seriesHumans
- Design
- Case series
- Subjects
- 1 patient
- What was measured
- Urinary and serum carnosine on normal and meat-free diets and after a carnosine load; carnosinase activity in serum, liver and nerve; nerve and skin biopsy morphology.
What the authors reported
A 12-year-old boy had progressive sensory polyneuropathy with carnosinase deficiency. Carnosinuria persisted on a meat-free diet, carnosinaemia was not seen, and a carnosine load increased unmetabolised carnosine in urine. Carnosinase activity was deficient in serum, liver and nerve. The paper also reviews previously reported patients with intellectual disability.
Limits of this study
Single case report. Full text not read.
Source
PubMed 7266778 · doi:10.1055/s-2008-1059647
Entry checked against PubMed abstract (E-utilities) on 2026-10-19. The dose shown is the dose the researchers used. It is not a recommendation. How to read this page.